|
331
|
|
|
SS18L1 subunit of BAF chromatin remodeling complex |
CREST, LP2261, SMARCL2 |
|
|
332
|
|
|
SET binding protein 1 |
MRD29, SEB |
Acquired kyphoscoliosis, Alacrima, Alopecia, Annular pancreas, Arnold-chiari malformation, Arthrogryposis multiplex congenita, Atrial septal defect, Attention deficit hyperactivity disorder, Auditory processing disorder, Brachycephaly, Breast cancer, Mammary neoplasms, Breast carcinoma, Central hypothyroidism, Cerebral atrophy, Cerebral cortical atrophy, Colorectal cancer, Congenital camptodactyly, Congenital clubfoot, Congenital exomphalos, Congenital heart defects, Pulmonary hypoplasia, Congenital kyphoscoliosis, Coronary aneurysm, Developmental delay, Dysembryoplastic neuroepithelial tumor, Dysmorphic features, Dysphagia, Ependymoma, Frontal bossing, Hepatoblastoma, High palate, Hirschsprung disease, Hydronephrosis, Hypertrichosis, Hypoplasia of corpus callosum, Hypoplasia of nipple, Hypoplasia of rib, Hypoplasia of the epiglottis, Hypospadias, Mental retardation, Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Kawasaki disease, Language development disorders, Laryngomalacia, Leukemia, Macroglossia, Macrostomia, Marfan syndrome, Micrognathism, Monocytic leukemia, Motor delay, Multiple congenital anomalies, Myelodysplastic syndrome, Myeloid leukemia, Myelomonocytic leukemia, Nephroblastoma, Nephrolithiasis, Neural tube defect, Neurodevelopmental disorders, Penile hypospadias, Penis agenesis, Ptosis, Radioulnar synostosis, Renal cyst, Sacrococcygeal teratoma, Salaam seizures, Schinzel-giedion syndrome, Speech delay, Streak ovary, Synophrys, Teratoma, Postaxial hand polydactyly, Vocal cord paralysisView all (59 more) |
|
333
|
|
|
SLIT and NTRK like family member 5 |
LRRC11, bA364G4.2 |
|
|
334
|
|
|
SUMO specific peptidase 6 |
SSP1, SUSP1 |
|
|
335
|
|
|
SERPINE1 mRNA binding protein 1 |
CGI-55, CHD3IP, HABP4L, Hero45, PAI-RBP1, PAIRBP1 |
|
|
336
|
|
|
Sperm associated antigen 8 |
BS-84, CILD28, CT142, HSD-1, SMP1, SPAG3, hSMP-1 |
|
|
337
|
|
|
Signal transducing adaptor family member 1 |
BRDG1, STAP-1 |
|
|
338
|
|
|
Solute carrier family 13 member 4 |
NAS2, SUT-1, SUT1 |
|
|
339
|
|
|
Sacsin molecular chaperone |
ARSACS, DNAJC29, PPP1R138, SPAX6 |
Action myoclonus-renal failure syndrome, Arachnoid cyst, Ataxia, Cerebellar ataxia, Cerebellar atrophy, Colorectal cancer, Demyelinating neuropathy, Dentatorubral pallidoluysian atrophy, Distal amyotrophy, Dysarthria, Dysmorphic features, Dysphagia, Erectile dysfunction, Hypoplasia of corpus callosum, Inclusion-body disease, May-white syndrome, Mental retardation, Mitral valve prolapse, Movement disorders, Myoclonic epilepsy, Nystagmus, Sensorimotor neuropathy, Spastic ataxia, Spastic ataxia of charlevoix-saguenay, Spastic paraplegiaView all (10 more) |
|
340
|
|
|
Seizure related 6 homolog like 2 |
BSRPA, PSK-1 |
|
